Clinical Report: Congenital Pulmonary Airway Malformation Linked to DICER1 Variant

Overview

This case study presents a girl diagnosed with congenital pulmonary airway malformation type IV (CPAM IV) who carries a germline splicing variant in the DICER1 gene.

Background

Congenital pulmonary airway malformation (CPAM) and pleuropulmonary blastoma (PPB) share significant radiographic and histopathological features, complicating their differentiation. DICER1 mutations are associated with PPB and other tumors.

Data Highlights

This case study reports a heterozygous splicing variant in the DICER1 gene (c.4206 + 1G > T) identified through whole-exome sequencing. A somatic DICER1 hotspot mutation (c.5438A > G p.E1813G) was also detected.

Key Findings

• A germline DICER1 splicing variant was identified in a patient with CPAM IV.
• The variant disrupts the donor splice site of intron 22, leading to exon fragment deletion.
• A somatic DICER1 mutation consistent with the two-hit tumorigenesis model was detected.
• The patient remained clinically stable at 22 months postoperative follow-up.

Clinical Implications

DICER1 genetic testing may be warranted for pediatric patients diagnosed with CPAM IV, regardless of family history.

Conclusion

This case reports a patient with CPAM IV carrying a germline variant and a somatic mutation in the DICER1 gene.

Related Resources & Content

1. BMC Pregnancy and Childbirth, 2026 -- Identification of a DICER1 mutation in a preeclamptic patient with ruptured ovarian Sertoli–Leydig cell tumor and renal allograft failure under hemodialysis: a case report
2. Frontiers in Pediatrics, 2026 -- Recurrent pleuropulmonary blastoma type III initially misclassified as embryonal rhabdomyosarcoma on limited biopsy: a case report with pathogenic DICER1 variant
3. DICER1-Related Tumor Predisposition -- National Center for Biotechnology Information
4. Brain — Deep learning analyses of splicing variants identify the link of PCP4 with amyotrophic lateral sclerosis
5. Acta Neuropathologica — Germline Variants in the CDH1 E-cadherin Gene Linked to Increased Risk of Neuroepithelial and Epithelial Brain Tumors
6. Pleuropulmonary blastoma and the challenge of distinguishing the cystic form (type I) from other congenital lung malformations
7. Congenital Lung Anomalies in Adults | RadioGraphics
8. Pulmonary Pathology Society
9. DICER1-Related Tumor Predisposition
10. Checking your browser - reCAPTCHA
11. Pleuropulmonary Blastoma in Children: A Nationwide Multicenter Study - PMC
12. No Pathogenic DICER1 Gene Variants in a Cohort Study of 28 Children With Congenital Pulmonary Airway Malformation
13. Pleuropulmonary blastoma type I might arise in congenital pulmonary airway malformation type 4 by acquiring a Dicer 1 mutation - PMC
14. Distinguishing Pleuropulmonary Blastoma From Congenital Lung Malformations via CT